Abstract
Piknodizostozis; osteoskleroz, boy kısalığı ve kemik kırılganlığında artış ile karakterize, otozomal resesif kalıtılan nadir bir iskelet bozukluğudur. Mineralize kemikten organik matriksin yıkılmasında gerekli olan ve osteoklastlarda yüksek oranda eksprese olan katepsin K geninde (CTSK) mutasyonlardan kaynaklanır. Bir sistin proteaz olan katepsin K, düşük pH' da kemik matriks proteinleri, tip I ve tip II kollajeni, osteopontin ve osteonektini parçalar. Hastalar kafatasında genişleme, yüz hatlarının küçüklüğü, çıkıntılı burun ve mikrognatiye bağlı olarak tipik bir yüz görünümüne sahiptir. Radyolojik olarak belirgin kemik sklerozu, frajilite artışı özellikleriyle osteopetrozise benzer ancak ondan geniş mandibular açı, korunmuş medüller kanal ve aneminin daha nadir görülmesi ayrılır. Burada ön fontanel kapanmasında gecikme ve boy kısalığı nedeniyle başvuran, ailesinde de benzer olgular bulunan ve basit bir radyolojik tetkik ile piknodizostozis tanısı konulan, ailesel bir olgu sunulmuştur.
References
- Fratzl-Nelman N,, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K. Decreased bone turnover and deterioration of bo- ne structure in two cases of pycnodysostosis. J Clin Endocrinol Me- tab 2004;89:1538-1547.
- Schilling AF, Mülhausen C, Lehmann W, Santer R, Schinke T, Rue Polymeropoulus MH, Ortiz De Luna RI, Ide SE, Torres R, Ru- benstein J, Francomano CA. The gene for Pycnodysostosis maps to human chromosome 1 cen-q21. Nat Genet 1995;10:238-239.
- Davutoğlu M, Karabiber H, Özbek ZA, Dilber C, Garipardıç M.
- Fontanel kapanmasında gecikme her zaman patolojik midir? Türkiye Cabrejas ML, Fromm GA, Roca JF, Mendez MA, Bur GE, Ferreyra
- ME, Demarchi C, Schurman L. Pycnodysostosis: some aspects con Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM.
- Pycnodysostosis: Clinical, radiologic and endocrine evaluation and lineer growth after growth hormone therapy. Metabolism 2001;50: 905-911.
Abstract
Pycnodysostosis is an uncommon genetic disorder characterized by osteosclerosis of skeleton, short stature and bone fragility. The disease results from mutations in cathepsin K gene (CTSK) which is highly expressed in osteoclasts and crucial for the degradation of organic matrix from mineralized bone. Cathepsin K, a sistine protease, degrades bone matrix proteins, type I and type II collagen, osteopontin and osteonectin at low pH. Patiens have a typical appearance secondary to prominence of the calvarium, smallness of facial features, prominent nose and micrognatia. It resembles osteopetrosis with obvious bone sklerosis radiologically, and increased bone fragility; however the preservation of the medullary canal of long bones, increased mandibular angle and more rarely seen anemia distinguish it from osteopetrosis. We present a case, who, admitted with short stature, delayed closure of anterior fontanelle with similar cases in her family. She was diagnosed as by a pycnodysostosis simple radiological investigation
References
- Fratzl-Nelman N,, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K. Decreased bone turnover and deterioration of bo- ne structure in two cases of pycnodysostosis. J Clin Endocrinol Me- tab 2004;89:1538-1547.
- Schilling AF, Mülhausen C, Lehmann W, Santer R, Schinke T, Rue Polymeropoulus MH, Ortiz De Luna RI, Ide SE, Torres R, Ru- benstein J, Francomano CA. The gene for Pycnodysostosis maps to human chromosome 1 cen-q21. Nat Genet 1995;10:238-239.
- Davutoğlu M, Karabiber H, Özbek ZA, Dilber C, Garipardıç M.
- Fontanel kapanmasında gecikme her zaman patolojik midir? Türkiye Cabrejas ML, Fromm GA, Roca JF, Mendez MA, Bur GE, Ferreyra
- ME, Demarchi C, Schurman L. Pycnodysostosis: some aspects con Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM.
- Pycnodysostosis: Clinical, radiologic and endocrine evaluation and lineer growth after growth hormone therapy. Metabolism 2001;50: 905-911.
Details
| Other ID | JA57CA47KJ |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | June 1, 2008 |
| Submission Date | June 1, 2008 |
| Published in Issue | Year 2008 Volume: 2 Issue: 2 |
Cite
The publication language of Turkish Journal of Pediatric Disease is English.
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